National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Rhizomelic Chondrodysplasia Punctata
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85047
code	C85047
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.
FULL_SYN	Rhizomelic Dwarfism Rhizomelic Chondrodysplasia Punctata Syndrome
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97075
label	Rhizomelic Chondrodysplasia Punctata
NICHD_Hierarchy_Term	Rhizomelic Chondrodysplasia Punctata
Preferred_Name	Rhizomelic Chondrodysplasia Punctata
prefixIRI	C85047
prefLabel	Rhizomelic Chondrodysplasia Punctata
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0282529
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84632

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_2580	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/ICD10CM/E71.540	International Classification of Diseases, Version 10 - Clinical Modification	LOOM